Results 111 to 120 of about 4,545,027 (267)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz   +3 more
wiley   +1 more source

Are Playgrounds a Case of Occupational Injustice? Experiences of Parents of Children with Disabilities

open access: yes, 2016
Occupational injustice refers to a setting or situations that can restrict a person in performing an occupation. Because a playground is a setting that can restrict children with disabilities from the occupation of playing, this paper frames playground ...
Prellwitz, Maria,, Skär, Lisa,
core   +1 more source

Pediatric burkitt lymphoma: 5 years experience from a single tertiary care center in low-middle income country

open access: yesPediatric Hematology Oncology Journal, 2022
Trupti Dhabale   +10 more
doaj   +1 more source

A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai   +5 more
wiley   +1 more source

Legislative summary (Connecticut. Dept. of Children and Families : Online)

open access: yes, 2007
Annual; Harvested from the web on 12/6 ...

core  

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini   +28 more
wiley   +1 more source

Legislative summary (Connecticut. Dept. of Children and Families : Online)

open access: yes, 2009
Annual; Harvested from the web on 12/6 ...

core  

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane   +43 more
wiley   +1 more source

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